Clinical and echocardiographic survey of the Ehlers-Danlos syndrome

Cardiac abnormalities such as mitral valve prolapse (MVP) are reported tobe common features of the Ehlers Danlos syndrome (EDS), and it has beensuggested that the majority of patients with type IV EDS will have cardiacinvolvement and vascular aneurysms. However, the evidence for valve lesionsis inconsistent and often based on early clinical studies using mainlyM-mode echo. We studied 33 patients (six male, 27 female; median age 35 yr)with EDS (30 type I, II or III, three type IV) and 30 age- and sex-matchedcontrols. The study assessed skin stretch and joint hypermobility usingBeighton and Contompasis scores. Echocardiographic examination includedstandard two-dimensional views from the parasternal and apical windows, andmeasurement of the aorta at four sites (annulus, sinotubular junction, archand abdominal aorta). Echocardiographic abnormalities were found in fourpatients (12.1%) (one atrial septal aneurysm, one tricuspid prolapse, twoMVP) and two controls (6.7%). MVP was found in 6.1% of EDS patients and 7%of controls. Seven patients had previously been diagnosed as having MVP;only two were shown to have true MVP using current criteria. None of thosewith type IV EDS had any echocardiographic abnormality. No patients withEDS had mean aortic dimensions outside the normal range at any of thepoints tested. Cardiac symptoms were more frequent amongst the patientsthan controls (atypical chest pain 48%, P = 0.0001; palpitation 39%, P =0.001; exertional dyspnoea 30%). A wide range of rheumatological complaintswere reported (current arthralgia 75%; recent back pain 72%, P = 0.005;recurrent dislocation 72%). Contrary to earlier published observations, wehave not found an increased incidence of cardiac abnormalities in EDS. Thissyndrome may be relatively more benign, from the cardiac point of view,than was previously thought.